Endocrine Abstracts

A 35 year old lady presented to endocrine services with a background of attempted conception and oligomenorrhoea. Presenting features were typical of acromegaly including sweating, acne and median nerve entrapment. Growth hormone day curve showed unrelenting high levels of growth hormone. Serum IGF-1 was elevated at 154 nmol/l (normal 14.2–36.9). Other pituitary blood tests were within normal limits. A pituitary macroadenoma measuring 1.5×1.5×1.3 cm was found on...

A 41 year old man was referred to the endocrine service at St Barts hospital. He had previously had a GP check-up and was found to be hypertensive, this led to him having an ultrasound KUB, an abnormality was detected which resulted in a CT abdomen being performed. The CT abdomen showed a 38×33 mm well defined right adrenal lesion and the patient was referred to endocrinology. Upon review, the patient had been having palpitations for the past year - particularly when stra...

A 22 year old man was referred to the endocrine unit at St Barts following an abnormal visual field test with his optician and subsequently with ophthalmology at Moorfields eye hospital. At presentation he was noted to be very tall (194 cm), with facial features of growth hormone excess. Despite starting puberty at the age of 12–13 he had experienced continued vertical growth - he was the tallest in his family and his parents had commented that he was continuing to grow, ...

A 29 year old lady presented to an outside hospital with 1 year’s history of episodes of confusion in the mornings. The patient’s partner had noticed that 2–3 times a week she awoke with episodes of confusion, minimal communication, stereotyped lip smacking and winking lasting up to 20 min. She had one nocturnal tonic-clonic seizure abroad, requiring A+E attendance. She was then seen by a neurologist, had a normal sleep deprived EEG and was diagnosed with focal ...

: AIP mutation-positive familial isolated pituitary adenoma is commonly diagnosed in young patients who have a poor prognosis due to large, treatment-resistant tumours. Microarray analysis carried out on AIP knockdown pituitary (GH3) cells and control cells, identified CDC42 as one of the genes that was up-regulated by loss of AIP protein. This small Rho GTPase activates MAPK signalling, suggesting it may contribute to the proliferative phenotype of AIP knock...

Background: A founder mutated AIP allele, R304* was previously identified in several Irish familial isolated pituitary adenoma (FIPA) pedigrees from a small region within Mid Ulster, Northern Ireland, but the allele’s general population impact remains unknown.Aims: To estimate R304* prevalence in the general population and pituitary adenoma (PA) patients and to calculate the allele’s time to most recent common ancestor (tMRCA).<p c...